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- W1130072091 abstract "Publisher Summary This chapter discusses inherited and noninherited ataxias. The inherited and noninherited ataxias comprise a wide spectrum of disorders, with ataxia as the leading symptom. In most of these disorders, ataxia is because of degeneration of the cerebellar cortex and its afferent or efferent fiber connections. Friedreich's ataxia (FRDA) is an autosomal recessively inherited ataxia with early disease onset. The major clinical signs of FRDA are progressive gait and limb ataxia, dysarthria, lower limb areflexia, loss of proprioception and hypertrophic cardiomyopathy. Further symptoms include muscle weakness, distal muscle wasting, extensor plantar responses, oculomotor disturbances with square wave jerks and reduced vestibulo-ocular reflex, optic atrophy, skeletal deformities, and diabetes mellitus. MRI typically shows cervical spinal cord atrophy without major cerebellar atrophy. FRDA patients should receive physiotherapy and speech therapy. With progression of the disease, most patients will require walking aids and a wheelchair. If necessary, FRDA patients should receive standard medical treatment for cardiomyopathy and diabetes mellitus." @default.
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- W1130072091 title "Inherited and Noninherited Ataxias" @default.
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